Product Details

SNP ID
rs8104172
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:4294413 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TAGGTTGCACAGGCTAGGGGCTTTG[C/T]CTCTATTTCTGAAAAACATGAGCAT
Phenotype
MIM: 610481 MIM: 614715
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
SHD PubMed Links

Gene Details

Gene
SHD
Gene Name
Src homology 2 domain containing transforming protein D
There are no transcripts associated with this gene.

Gene
TMIGD2
Gene Name
transmembrane and immunoglobulin domain containing 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001169126.1 625 Intron NP_001162597.1
NM_001308232.1 625 Intron NP_001295161.1
NM_144615.2 625 Intron NP_653216.2
XM_017026284.1 625 Missense Mutation ACA,GCA T191A XP_016881773.1

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